A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628990



Internal ID6669130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29691450..29693507hg38UCSC Ensembl
Innerchr12:29691450..29693507hg38UCSC Ensembl
Outerchr12:29691450..29693507hg38UCSC Ensembl
chr12:29844383..29846440hg19UCSC Ensembl
Innerchr12:29844383..29846440hg19UCSC Ensembl
Outerchr12:29844383..29846440hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382058
hg192058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14423632, essv14423435, essv14423568, essv14423165, essv14423770, essv14423178, essv14423225, essv14423789, essv14423075, essv14423344, essv14423466, essv14423318, essv14423689, essv14423379, essv14423272, essv14423332, essv14423574, essv14423655, essv14423538, essv14423478, essv14423543, essv14423535, essv14423670, essv14423417, essv14423573, essv14423357, essv14423785, essv14423788, essv14423205, essv14423335, essv14423133, essv14423340, essv14423858, essv14423765, essv14423800, essv14423717, essv14423791, essv14423050, essv14423615, essv14423120, essv14423079, essv14423236, essv14423856, essv14423353, essv14423416, essv14423220, essv14423536, essv14423504, essv14423756, essv14423779, essv14423115, essv14423702, essv14423262, essv14423176, essv14423085, essv14423181, essv14423097, essv14423240, essv14423261, essv14423620, essv14423735, essv14423352, essv14423088, essv14423424, essv14423599, essv14423393, essv14423359, essv14423606, essv14423706, essv14423155, essv14423410, essv14423490, essv14423803, essv14423187, essv14423273, essv14423333, essv14423821, essv14423847, essv14423111, essv14423118, essv14423326, essv14423369, essv14423433, essv14423592, essv14423158, essv14423298, essv14423813, essv14423718, essv14423144, essv14423354, essv14423657, essv14423196, essv14423591, essv14423253, essv14423350, essv14423502, essv14423705, essv14423529, essv14423834, essv14423244, essv14423757, essv14423762, essv14423798, essv14423495, essv14423437, essv14423497, essv14423305, essv14423644, essv14423296, essv14423053, essv14423419, essv14423544, essv14423764, essv14423180, essv14423409, essv14423820, essv14423363, essv14423549, essv14423241, essv14423741, essv14423824, essv14423547, essv14423265, essv14423444, essv14423546, essv14423125, essv14423679, essv14423295, essv14423651, essv14423617, essv14423736, essv14423570, essv14423183, essv14423799, essv14423052, essv14423553, essv14423137, essv14423565, essv14423288, essv14423131, essv14423129, essv14423190, essv14423174, essv14423081, essv14423769, essv14423436, essv14423660, essv14423691, essv14423054, essv14423300, essv14423654, essv14423793, essv14423193, essv14423569, essv14423395, essv14423802, essv14423439, essv14423456, essv14423243, essv14423555, essv14423073, essv14423727, essv14423260, essv14423837, essv14423629, essv14423602, essv14423440, essv14423505, essv14423336, essv14423242, essv14423173, essv14423211, essv14423506, essv14423539, essv14423594, essv14423399, essv14423216, essv14423358, essv14423445, essv14423639, essv14423247, essv14423166, essv14423269, essv14423664, essv14423780, essv14423270, essv14423611, essv14423104, essv14423692, essv14423402, essv14423281, essv14423853, essv14423169, essv14423513, essv14423552, essv14423518, essv14423370, essv14423154, essv14423311, essv14423197, essv14423532, essv14423060, essv14423530, essv14423488, essv14423590, essv14423138, essv14423080, essv14423696, essv14423719, essv14423394, essv14423314, essv14423656, essv14423854, essv14423368, essv14423349, essv14423476, essv14423666, essv14423707, essv14423058, essv14423755, essv14423090, essv14423413, essv14423451, essv14423351, essv14423646, essv14423557, essv14423199, essv14423520, essv14423659, essv14423725, essv14423720, essv14423151, essv14423284, essv14423446, essv14423215, essv14423627, essv14423364, essv14423422, essv14423431, essv14423809, essv14423217, essv14423256, essv14423403, essv14423763, essv14423264, essv14423457, essv14423533, essv14423749, essv14423083, essv14423299, essv14423597, essv14423669, essv14423645, essv14423304, essv14423268, essv14423375, essv14423112, essv14423161, essv14423110, essv14423420, essv14423748, essv14423782, essv14423790, essv14423795, essv14423818, essv14423396, essv14423415, essv14423149, essv14423588, essv14423480, essv14423684, essv14423709, essv14423614, essv14423122, essv14423235, essv14423051, essv14423716, essv14423772, essv14423635, essv14423704, essv14423246, essv14423519, essv14423596, essv14423835, essv14423828, essv14423731, essv14423084, essv14423548, essv14423482, essv14423778, essv14423156, essv14423622, essv14423833, essv14423328, essv14423331, essv14423366, essv14423392, essv14423829, essv14423682, essv14423761, essv14423228, essv14423224, essv14423579, essv14423510, essv14423726, essv14423618, essv14423754, essv14423786, essv14423356, essv14423663, essv14423740, essv14423297, essv14423388, essv14423512, essv14423386, essv14423432, essv14423843, essv14423341, essv14423781, essv14423390, essv14423550, essv14423832, essv14423404, essv14423643, essv14423179, essv14423338, essv14423722, essv14423819, essv14423276, essv14423204, essv14423842, essv14423345, essv14423500, essv14423474, essv14423521, essv14423849, essv14423640, essv14423713, essv14423693, essv14423160, essv14423733, essv14423489, essv14423710, essv14423825, essv14423108, essv14423686, essv14423140, essv14423271, essv14423322, essv14423254, essv14423325, essv14423619, essv14423648, essv14423086, essv14423287, essv14423608, essv14423057, essv14423239, essv14423442, essv14423507, essv14423209, essv14423493, essv14423721, essv14423744, essv14423049, essv14423810, essv14423362, essv14423113, essv14423177, essv14423626, essv14423301, essv14423189, essv14423534, essv14423302, essv14423628, essv14423283, essv14423082, essv14423093, essv14423188, essv14423203, essv14423783, essv14423647, essv14423450, essv14423389, essv14423414, essv14423475, essv14423729, essv14423585, essv14423699, essv14423850, essv14423135, essv14423163, essv14423517, essv14423207, essv14423334, essv14423470, essv14423601, essv14423680, essv14423157, essv14423674, essv14423237, essv14423429, essv14423531, essv14423486, essv14423604, essv14423857, essv14423348, essv14423485, essv14423255, essv14423610, essv14423839, essv14423105, essv14423230, essv14423321, essv14423405, essv14423381, essv14423182, essv14423382, essv14423096, essv14423427, essv14423251, essv14423294, essv14423567, essv14423089, essv14423378, essv14423385, essv14423459, essv14423746, essv14423826, essv14423070, essv14423206, essv14423250, essv14423323, essv14423593, essv14423773, essv14423794, essv14423859, essv14423222, essv14423162, essv14423426, essv14423434, essv14423464, essv14423836, essv14423768, essv14423625, essv14423126, essv14423576, essv14423109, essv14423522, essv14423185, essv14423367, essv14423438, essv14423753, essv14423232, essv14423712, essv14423327, essv14423124, essv14423347, essv14423400, essv14423119, essv14423134, essv14423337, essv14423728, essv14423421, essv14423603, essv14423551, essv14423171, essv14423376, essv14423558, essv14423739, essv14423784, essv14423201, essv14423605, essv14423377, essv14423212, essv14423198, essv14423275, essv14423231, essv14423309, essv14423361, essv14423750, essv14423290, essv14423823, essv14423191, essv14423501, essv14423621, essv14423724, essv14423062, essv14423116, essv14423807, essv14423811, essv14423406, essv14423562, essv14423066, essv14423219, essv14423308, essv14423458, essv14423117, essv14423683, essv14423840, essv14423303, essv14423069, essv14423383, essv14423465, essv14423668, essv14423808, essv14423092, essv14423703, essv14423582, essv14423742, essv14423563, essv14423616, essv14423676, essv14423855, essv14423234, essv14423814, essv14423289, essv14423711, essv14423315, essv14423430, essv14423527, essv14423667, essv14423098, essv14423114, essv14423827, essv14423320, essv14423121, essv14423168, essv14423278, essv14423310, essv14423559, essv14423586, essv14423407, essv14423194, essv14423248, essv14423412, essv14423695, essv14423715, essv14423130, essv14423346, essv14423631, essv14423132, essv14423055, essv14423452, essv14423508, essv14423453, essv14423371, essv14423516, essv14423282, essv14423316, essv14423503, essv14423745, essv14423263, essv14423307, essv14423816, essv14423087, essv14423221, essv14423355, essv14423210, essv14423526, essv14423463, essv14423845, essv14423292, essv14423685, essv14423846, essv14423447, essv14423792, essv14423641, essv14423280, essv14423306, essv14423577, essv14423274, essv14423638, essv14423056, essv14423103, essv14423423, essv14423743, essv14423777, essv14423694, essv14423148, essv14423609, essv14423238, essv14423760, essv14423141, essv14423063, essv14423455, essv14423128, essv14423330, essv14423776, essv14423471, essv14423286, essv14423473, essv14423678, essv14423698, essv14423101, essv14423312, essv14423387, essv14423374, essv14423454, essv14423479, essv14423595, essv14423477, essv14423072, essv14423259, essv14423214, essv14423665, essv14423671, essv14423572, essv14423324, essv14423623, essv14423064, essv14423759, essv14423801, essv14423787, essv14423252, essv14423545, essv14423815, essv14423448, essv14423293, essv14423061, essv14423575, essv14423208, essv14423257, essv14423662, essv14423581, essv14423556, essv14423065, essv14423175, essv14423541, essv14423139, essv14423279, essv14423184, essv14423342, essv14423285, essv14423123, essv14423266, essv14423661, essv14423499, essv14423700, essv14423633, essv14423218, essv14423496, essv14423747, essv14423441, essv14423467, essv14423313, essv14423150, essv14423258, essv14423797, essv14423613, essv14423634, essv14423688, essv14423343, essv14423690, essv14423146, essv14423796, essv14423852, essv14423838, essv14423102, essv14423372, essv14423564, essv14423561, essv14423167, essv14423428, essv14423630, essv14423697, essv14423751, essv14423170, essv14423758, essv14423127, essv14423186, essv14423540, essv14423213, essv14423373, essv14423774, essv14423449, essv14423460, essv14423642, essv14423226, essv14423245, essv14423498, essv14423408, essv14423145, essv14423560, essv14423587, essv14423484, essv14423511, essv14423095, essv14423469, essv14423650, essv14423598, essv14423076, essv14423830, essv14423523, essv14423391, essv14423483, essv14423732, essv14423775, essv14423107, essv14423515, essv14423734, essv14423339, essv14423738, essv14423481, essv14423583, essv14423841, essv14423099, essv14423059, essv14423411, essv14423249, essv14423329, essv14423472, essv14423542, essv14423192, essv14423319, essv14423636, essv14423737, essv14423723, essv14423578, essv14423580, essv14423806, essv14423822, essv14423078, essv14423425, essv14423637, essv14423624, essv14423267, essv14423398, essv14423752, essv14423443, essv14423100, essv14423844, essv14423525, essv14423164, essv14423509, essv14423528, essv14423701, essv14423071, essv14423136, essv14423365, essv14423418, essv14423487, essv14423462, essv14423584, essv14423227, essv14423766, essv14423068, essv14423143, essv14423401, essv14423675, essv14423831, essv14423317, essv14423468, essv14423492, essv14423771, essv14423848, essv14423195, essv14423067, essv14423817, essv14423074, essv14423554, essv14423805, essv14423812, essv14423607, essv14423673, essv14423360, essv14423537, essv14423142, essv14423804, essv14423091, essv14423524, essv14423767, essv14423384, essv14423714, essv14423571, essv14423649, essv14423233, essv14423461, essv14423658, essv14423380, essv14423566, essv14423681, essv14423291, essv14423677, essv14423851, essv14423159, essv14423229, essv14423652, essv14423612, essv14423653, essv14423106, essv14423600, essv14423223, essv14423094, essv14423397, essv14423708, essv14423589, essv14423514, essv14423730, essv14423147, essv14423172, essv14423153, essv14423077, essv14423672, essv14423152, essv14423200, essv14423687, essv14423277, essv14423202, essv14423494, essv14423491
SamplesNA18642, HG01441, HG01878, NA19146, HG02317, HG03015, HG01440, HG02675, NA19026, HG02275, HG03382, NA19089, HG01852, NA18530, NA18535, NA19081, NA21110, HG03631, HG00328, HG01941, NA18523, HG00705, HG00437, HG00500, HG00274, NA18757, NA20796, HG01277, HG00632, NA20346, HG02792, HG02419, HG01777, HG01845, HG02152, HG01389, HG02139, HG02648, HG00463, NA18516, HG01365, HG01850, NA19334, HG00189, HG02681, HG01816, HG00428, HG01915, HG00542, HG03920, HG02375, HG03432, NA19144, HG00111, HG00355, HG00581, HG00404, HG01101, NA20845, HG03696, HG04094, HG03380, HG03268, HG01860, HG01936, NA20853, HG04106, NA19037, HG02133, HG01468, HG03817, HG02081, HG00158, HG00556, HG01384, NA19984, NA21111, HG04144, NA19076, HG01375, HG03484, HG02394, NA19309, HG00406, NA18635, NA19443, NA18623, HG01048, NA19107, HG01572, HG01866, NA18990, NA18636, NA19083, NA19088, NA18956, NA19429, HG02410, HG03793, NA21116, HG01161, HG01253, HG04222, NA18593, HG02380, NA19457, HG00343, HG00662, HG02076, NA19190, NA19000, HG00306, HG02392, HG00097, HG00844, HG02236, HG02814, HG03085, HG00233, NA19372, HG01516, NA18633, HG02541, NA12778, NA19102, NA20884, HG00365, HG01486, HG02922, HG02786, HG02807, HG01170, HG01351, NA18878, HG00740, NA19001, HG00525, HG01805, HG04093, NA18910, HG03823, HG02113, HG02190, HG00674, HG03132, NA18619, NA18987, HG01137, HG01190, NA19794, HG02645, NA20276, HG01345, HG01695, NA19025, HG02070, HG03045, NA12812, NA19009, HG03716, HG02035, HG00118, HG03078, NA19755, NA18879, HG01945, HG02187, NA20810, NA18944, HG01366, HG02256, HG02089, NA19006, NA18610, NA19752, NA20758, HG01498, HG00625, HG01842, HG03271, NA12717, NA19350, HG04171, HG01869, HG01932, HG02064, NA19385, HG02855, HG01474, HG01980, HG04107, HG00327, HG02839, HG01864, NA20281, NA18964, NA19625, HG01775, HG00318, NA20514, HG03785, HG01675, NA21125, HG01603, NA19321, HG01612, HG02398, NA20278, HG01250, HG01817, HG01072, NA20785, NA20506, HG03084, NA18952, NA18975, NA18874, HG02407, NA20516, HG00731, HG01858, NA20508, HG00449, NA19090, NA18550, NA19003, NA19455, HG04211, NA20299, NA12340, NA18993, HG01624, NA18948, HG01847, NA18648, HG02260, HG03969, NA19317, NA20511, HG01431, NA18877, HG02048, HG02952, NA18591, NA20808, HG01956, HG03265, NA18969, NA18972, NA19010, HG02887, HG03124, HG00375, NA20342, HG00173, HG01491, NA20778, NA19782, HG00553, HG01286, HG02105, HG03048, HG02379, HG00190, HG01131, HG01771, HG02020, HG02146, NA19210, HG00106, HG00701, NA20900, HG03680, HG01188, NA19017, HG01577, HG02156, HG03019, HG00651, HG03538, HG03765, HG01571, NA11893, HG00331, HG01990, NA21129, NA18965, NA19084, HG02778, HG01348, HG02976, HG02583, HG01551, NA18873, NA19147, NA19776, HG00479, NA20586, HG01133, NA19043, NA18632, HG01311, HG02455, HG03846, NA20761, HG04219, NA19067, NA19428, HG01086, NA18998, NA20885, HG02155, NA18624, NA18934, HG00179, HG01456, HG03235, HG01510, NA19059, HG01796, HG02654, NA19652, HG00583, HG01618, HG03021, HG01028, NA18566, NA18957, HG00337, NA11994, NA19057, HG02121, HG00140, HG01865, HG02716, NA18960, HG00332, HG01938, HG02050, NA07357, NA20504, NA20757, NA18644, NA19722, HG02577, NA19011, HG02968, NA20783, HG00372, HG01851, NA18991, HG02373, HG03911, NA20754, NA18531, HG02861, NA19397, NA19066, HG01396, NA19774, NA20882, HG00419, HG03871, NA18547, HG00258, HG01997, HG03100, NA18976, HG01113, HG01136, HG01527, HG02028, NA18973, HG00264, NA19773, HG01707, NA18982, NA19056, NA19663, NA20892, HG00403, HG00982, HG03595, NA18634, HG01599, HG00584, HG04185, NA18970, NA20773, HG00867, HG01497, NA19676, NA21099, HG00436, HG02888, HG03773, HG00159, HG00620, HG02304, NA19377, NA19785, NA18537, NA18620, NA18645, NA19759, HG01705, HG02127, HG03998, NA18525, HG01308, NA18572, NA18954, HG02102, NA19375, HG00382, HG02562, NA18923, HG00559, HG01271, HG02278, NA06986, HG04070, HG02594, HG02804, HG04173, NA19657, HG03472, NA20864, NA19731, HG01073, HG01853, NA19098, HG03944, HG01369, NA19901, HG04062, HG00282, HG03514, HG03873, NA18748, NA19704, NA20814, HG00478, HG01923, NA18564, NA18942, HG01257, HG02111, NA18997, HG02384, NA18988, HG01070, HG01447, HG02265, NA19707, HG01767, NA18562, NA19074, NA19159, HG03291, HG03297, NA18974, NA18985, HG02395, HG00589, HG02085, HG03115, NA20891, HG02026, HG03175, HG00410, HG02406, HG03352, HG03363, NA18999, NA20581, HG01063, HG00590, HG00595, NA18552, NA19038, HG01326, HG04155, NA18983, HG00443, NA18599, NA20357, HG02235, HG02923, NA18567, HG03499, HG00611, HG03629, HG03789, NA12749, NA18915, NA18995, HG02182, HG00650, NA18867, HG01953, HG02134, HG03986, HG00663, HG03644, HG03913, NA20867, HG02075, NA19741, HG00362, NA19434, HG02144, HG03198, HG02186, NA18577, NA19099, HG02079, HG03905, HG01992, HG03476, HG03594, NA19064, HG01464, NA19749, HG01783, HG02589, NA19063, HG01619, HG02678, NA19655, HG03369, NA18571, HG00422, HG01746, HG01855, NA19070, HG02353, NA18984, HG03814, HG00251, NA20768, HG03557, HG00324, HG03372, HG02136, NA18532, NA18574, HG03012, HG01102, HG01462, NA19079, HG02391, HG00143, HG01781, NA19758, HG00476, NA20502, NA20517, HG01789, HG04195, HG02095, HG03490, HG01710, HG01863, HG00136, HG02130, HG02215, NA19065, HG01503, NA19121, NA20339, NA18980, HG01067, NA19439, NA20863, HG01198, HG02140, NA19012, HG01761, HG03120, HG01926, HG02291, NA18605, NA19214, NA18520, NA18595, NA20771, HG03861, HG00182, HG02272, NA20862, HG01353, HG00956, HG03762, HG00350, HG00978, NA19437, HG01083, HG03129, NA18526, HG00160, HG00457, HG02223, NA18603, NA19319, HG01031, HG03057, HG01051, HG02884, NA19449, HG00148, HG03111, HG01350, HG03298, NA18489, HG03458, HG02660, HG03103, NA18994, NA18963, NA07051, HG02817, HG03951, HG03967, HG04180, HG01134, HG01168, HG01861, HG03833, HG02613, NA20798, HG03949, HG03808, NA18557, NA18745, HG01608, HG01682, HG01968, NA18943, NA19761, HG01171, HG03863, NA18628, HG03049, NA19143, NA20340, HG00269, HG00592, HG01917, HG02312, NA19085, HG00346, NA18967, HG04075, HG03451, HG00593, HG02462, NA19390, HG02646, HG00308, NA19917, HG00358, HG00130, HG00096, HG01402, HG00759, HG01398, HG00728, HG00692, HG01183, HG01694, HG03442, HG03681, HG00121, HG02385, NA20127, HG01360, HG02348, HG02078, NA19075, HG00451, NA11995, NA18916, HG00174, NA12777, HG01247, HG01362, HG01596, NA19082, NA19042, NA21102, HG02757, HG02151, HG01600, NA19129, NA19771, HG02537, HG02054, NA21128, HG00640, HG00766, NA18939, NA20790, HG00383, HG00255, NA18986, NA20753, HG00851, HG01281, HG00672, HG02017, NA18978, HG03366, HG00103, HG00524, NA19720, NA21093, NA21100, HG02571, NA12283, NA19328, HG02072, HG02299, NA19141, HG01921, NA19235, HG01094, HG00445, HG02281, HG03691, HG02491, NA20756, HG01095, HG04033, HG04022, HG00717, NA20827, NA18538, HG03771, HG01862, HG01893, NA19747, NA18544, HG00608, NA18614, NA19475, NA20317, HG00285, HG02408, NA12546, HG03258, HG01951, HG03718, NA20792, NA19756, NA19346, HG00690, HG00473, HG00598, HG02315, HG02555, HG02620, NA18615, NA19454, HG00671, HG00271, HG04182, HG02425, HG02367, HG01354, HG02253, HG03937, NA18962, HG01868, NA18647, HG00881, HG03963, HG01813, NA19152, HG00536, HG01846, HG02116, NA20503, HG01052, HG02697, NA19222, HG03977, NA18561, HG02025, NA19404, HG01046, HG02086, HG02816, NA07056, HG01205, NA20906, HG00675, HG00245, NA19310, NA19783, HG00879, NA19060, HG00310, HG01794, HG02513, NA18570, NA19023, NA19072, HG02318, HG01054, HG03295
Known GenesTMTC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628990
Frequency
Sample Size2504
Observed Gain0
Observed Loss811
Observed Complex0
Frequencyn/a


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